Guest guest Posted January 12, 2006 Report Share Posted January 12, 2006 Welcome to the group. We are glad you have come here for support. Yes, many of your problems do sound familiar, espcially the pinprick followed by a jerking of the muscle, except mine were more like ice picks. It took me 15 years for a diagnosis and that was 8 years ago. My symptoms have progressed some, but many are being managed medically. My kidney problems (proximal renal tubular dysfunction) is managed with replacement electrolytes. The mito supplements and treatments for individual problems are treated medically. I have a son whose symptoms have lessoned over time (this is not common, but can happen) and I feel pretty good much of the time. This doesn't include fatique and exercise intolerance, but I am 63 and live alone and have worked (using a wheelchair for the past 13 years) until last Feb. I still don't use the wheelchair all the time, especially in the house. I hope you get some answers. From my 5th biopsy (fresh), I know that I have a complex I defect, but not a specific name. The names like MELAS and MERRF are just names for clusters of symptoms. They aren't caused by the same defect in all people and even those within the same family can have different symptoms with the same defect. This is one reason it is so hard to diagnose. Feel free to ask specific questions that you have. Someone on the list will jump in with their experience or suggestion. We are sometimes a little slow getting to our e-mail when our health is not good. Someone is always here with support - no question is silly and no fear or concern too small. I think you will find this a great group of people. laurie > Hi everyone, > My first time posting. > Not yet diagnosed, but doc is leaning toward an " inherent error of > metabolism " mentioned mitochondria and ragged red fibers. > > I've been sick for two years. > bouts of increasing problems, and some weird ones! > awful fatigue, seeing things negative and postive scotomas, spine > pain, numbness in arms, buringing in limbs, heat sensitivity, air > hunger, incredible muscle pain and spasms, twitching muscles, the > sensation of motion as in my head is like a parade float bobbing up > the avenue, ear ringing, pinprick sensation followed by muscle > jerks, using the wrong word ie: firefly for flashlight, dyslexia, > trouble concentrating, and so on, > > all comes in four to five week episodes with some remissions of > feeling fairly normal, although it's very easy to use up all the > day's energy within half an hour of waking up. > > My question is....Does any of this sound familiar? > I've have kidney issues for ten years,too. I was going to a nuero > who said it was " too early in the disease to say which one it is " > and later, when pressed to pick one said " O, there are so many to > choose from " and also told me my LP was normal when infact it was > abnormal.....and that was a year ago. > Flunked most of my neuro exams, and feel downright awful most of the > time. > Is this what it's like? > Not much info out there pointing to any hope.....can that be > possible? > Thanks so much for listening. > > > > > > > > > > Medical advice, information, opinions, data and statements contained herein > are not necessarily those of the list moderators. The author of this e mail > is entirely responsible for its content. List members are reminded of their > responsibility to evaluate the content of the postings and consult with > their physicians regarding changes in their own treatment. > > Personal attacks are not permitted on the list and anyone who sends one is > automatically moderated or removed depending on the severity of the attack. > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 13, 2006 Report Share Posted January 13, 2006 Dear Laurie, Thanks so much for your response. It's good to know that this can be managed somewhat. I hope some of these awful symptoms reverse themselves. 15 years is a disgustingly long time to be misdiagnosed, How did you feel when you heard the news? Do you work outside the house? Two of my teenage daughters exhibit two of the same symptoms I have, the muscle cramps (it affects their legs) and that air hunger business, I haven't talked to them yet as I don't have a confirmed diagnosis...........If I'm freaked out, I can only imagine what they will feel, since they are so young......How did your son handle it? I've just come from the MSWorld message board, where I lurked for the past year, as my internist was convinced I had RRMS. It's good to have a support system, that's for sure. Thanks again, Laurie Fitzgerald laurie.fitzgerald@...> wrote: Welcome to the group. We are glad you have come here for support. Yes, many of your problems do sound familiar, espcially the pinprick followed by a jerking of the muscle, except mine were more like ice picks. It took me 15 years for a diagnosis and that was 8 years ago. My symptoms have progressed some, but many are being managed medically. My kidney problems (proximal renal tubular dysfunction) is managed with replacement electrolytes. The mito supplements and treatments for individual problems are treated medically. I have a son whose symptoms have lessoned over time (this is not common, but can happen) and I feel pretty good much of the time. This doesn't include fatique and exercise intolerance, but I am 63 and live alone and have worked (using a wheelchair for the past 13 years) until last Feb. I still don't use the wheelchair all the time, especially in the house. I hope you get some answers. From my 5th biopsy (fresh), I know that I have a complex I defect, but not a specific name. The names like MELAS and MERRF are just names for clusters of symptoms. They aren't caused by the same defect in all people and even those within the same family can have different symptoms with the same defect. This is one reason it is so hard to diagnose. Feel free to ask specific questions that you have. Someone on the list will jump in with their experience or suggestion. We are sometimes a little slow getting to our e-mail when our health is not good. Someone is always here with support - no question is silly and no fear or concern too small. I think you will find this a great group of people. laurie > Hi everyone, > My first time posting. > Not yet diagnosed, but doc is leaning toward an " inherent error of > metabolism " mentioned mitochondria and ragged red fibers. > > I've been sick for two years. > bouts of increasing problems, and some weird ones! > awful fatigue, seeing things negative and postive scotomas, spine > pain, numbness in arms, buringing in limbs, heat sensitivity, air > hunger, incredible muscle pain and spasms, twitching muscles, the > sensation of motion as in my head is like a parade float bobbing up > the avenue, ear ringing, pinprick sensation followed by muscle > jerks, using the wrong word ie: firefly for flashlight, dyslexia, > trouble concentrating, and so on, > > all comes in four to five week episodes with some remissions of > feeling fairly normal, although it's very easy to use up all the > day's energy within half an hour of waking up. > > My question is....Does any of this sound familiar? > I've have kidney issues for ten years,too. I was going to a nuero > who said it was " too early in the disease to say which one it is " > and later, when pressed to pick one said " O, there are so many to > choose from " and also told me my LP was normal when infact it was > abnormal.....and that was a year ago. > Flunked most of my neuro exams, and feel downright awful most of the > time. > Is this what it's like? > Not much info out there pointing to any hope.....can that be > possible? > Thanks so much for listening. > > > > > > > > > > Medical advice, information, opinions, data and statements contained herein > are not necessarily those of the list moderators. The author of this e mail > is entirely responsible for its content. List members are reminded of their > responsibility to evaluate the content of the postings and consult with > their physicians regarding changes in their own treatment. > > Personal attacks are not permitted on the list and anyone who sends one is > automatically moderated or removed depending on the severity of the attack. > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 13, 2006 Report Share Posted January 13, 2006 Getting a diagnosis seems to be easier now as more doctors (MDA neuro's) become aware of it. I also had frozen biopsies and ones that weren't looking for the right thing done during that time. It was very frustrating, but at least it is behind me. I worked up until this past Feb. I am a special education teacher consultant and did fine with using my wheelchair and resting at home in the evenings. It was a very stressful job (trying to keep students, parents, teachers and administrators informed and happy). My son took the news of the mito in stride. He was very symptomatic when a child, so he had already learned to pace himself and rest when needed. He had already been told that he had a metabolic muscle disease and had several hospitalizations between his asthma and migraines. Of course, he is not someone who gets really upset about things. My mother was diagnosed after my sister ( on the list) her daughter and my younger son. My other son and two brothers have symptoms, but they aren't severe and they have enough information that they are comfortable with where they are at. We can also look back to my grandmother and at least one uncle with symptoms, so it has become a family thing which I think made it easier. I'm glad you feel comfortable posting. laurie > Dear Laurie, > Thanks so much for your response. > > It's good to know that this can be managed somewhat. I hope some of these > awful symptoms reverse themselves. > 15 years is a disgustingly long time to be misdiagnosed, > How did you feel when you heard the news? > Do you work outside the house? > > Two of my teenage daughters exhibit two of the same symptoms I have, the > muscle cramps (it affects their legs) and that air hunger business, I > haven't talked to them yet as I don't have a confirmed > diagnosis...........If I'm freaked out, I can only imagine what they will > feel, since they are so young......How did your son handle it? > > I've just come from the MSWorld message board, where I lurked for the > past year, as my internist was convinced I had RRMS. It's good to have a > support system, that's for sure. > Thanks again, > > > > Laurie Fitzgerald laurie.fitzgerald@...> wrote: > > > Welcome to the group. We are glad you have come here for support. > > Yes, many of your problems do sound familiar, espcially the pinprick > followed by a jerking of the muscle, except mine were more like ice > picks. It took me 15 years for a diagnosis and that was 8 years ago. > My symptoms have progressed some, but many are being managed > medically. My kidney problems (proximal renal tubular dysfunction) is > managed with replacement electrolytes. The mito supplements and > treatments for individual problems are treated medically. I have a son > whose symptoms have lessoned over time (this is not common, but can > happen) and I feel pretty good much of the time. This doesn't include > fatique and exercise intolerance, but I am 63 and live alone and have > worked (using a wheelchair for the past 13 years) until last Feb. I > still don't use the wheelchair all the time, especially in the house. > > I hope you get some answers. From my 5th biopsy (fresh), I know that I > have a complex I defect, but not a specific name. The names like MELAS > and MERRF are just names for clusters of symptoms. They aren't caused > by the same defect in all people and even those within the same family > can have different symptoms with the same defect. This is one reason > it is so hard to diagnose. > > Feel free to ask specific questions that you have. Someone on the list > will jump in with their experience or suggestion. We are sometimes a > little slow getting to our e-mail when our health is not good. Someone > is always here with support - no question is silly and no fear or > concern too small. I think you will find this a great group of people. > > laurie > > > > Hi everyone, > > My first time posting. > > Not yet diagnosed, but doc is leaning toward an " inherent error of > > metabolism " mentioned mitochondria and ragged red fibers. > > > > I've been sick for two years. > > bouts of increasing problems, and some weird ones! > > awful fatigue, seeing things negative and postive scotomas, spine > > pain, numbness in arms, buringing in limbs, heat sensitivity, air > > hunger, incredible muscle pain and spasms, twitching muscles, the > > sensation of motion as in my head is like a parade float bobbing up > > the avenue, ear ringing, pinprick sensation followed by muscle > > jerks, using the wrong word ie: firefly for flashlight, dyslexia, > > trouble concentrating, and so on, > > > > all comes in four to five week episodes with some remissions of > > feeling fairly normal, although it's very easy to use up all the > > day's energy within half an hour of waking up. > > > > My question is....Does any of this sound familiar? > > I've have kidney issues for ten years,too. I was going to a nuero > > who said it was " too early in the disease to say which one it is " > > and later, when pressed to pick one said " O, there are so many to > > choose from " and also told me my LP was normal when infact it was > > abnormal.....and that was a year ago. > > Flunked most of my neuro exams, and feel downright awful most of the > > time. > > Is this what it's like? > > Not much info out there pointing to any hope.....can that be > > possible? > > Thanks so much for listening. > > > > > > > > > > > > > > > > > > > > Medical advice, information, opinions, data and statements contained > herein > > are not necessarily those of the list moderators. The author of this e > mail > > is entirely responsible for its content. List members are reminded of > their > > responsibility to evaluate the content of the postings and consult with > > their physicians regarding changes in their own treatment. > > > > Personal attacks are not permitted on the list and anyone who sends one > is > > automatically moderated or removed depending on the severity of the > attack. > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 13, 2006 Report Share Posted January 13, 2006 Hi , welcome, you will get wonderful support here. Alot of your symptoms are like mine. I have a son Matt now 9 yrs old that was born with mito, he is more severe than me. Our neuro's communicate with each other so that is a big help too. we are both on the mito cocktail of Carnitor, q-10, and creatine. My son takes other supplements besides the mito cocktail as his neuro tailored his treatment specifically for him. My son is going to have a second biopsy which will hopefully show which mutation we have, our neuros believe we have MELAS with complex 1 defyciancy. we are both doing well on the cocktail, and understanding our mito we've learned our limitations, so we dont over do things and we know what to avoid, and nutrician has alot to do with how well we do. Hang in there, there is hope! Hugs Barb Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2006 Report Share Posted January 14, 2006 Hi Barbara, Thanks for the welcome. I'm sorry that you and your son suffer from this dieasese. How old is your son? How long did it take you to be diagnosed? Strange, as much as I don't want a disease, at the same time I need answers so desperately and feel like I absoultely can't do this anymore, I feel so awful. Did you feel an affect from the vitiamins right away? I'm hanging by a thread at this point.... thanks, laura Barbara matts_mom96@...> wrote: Hi , welcome, you will get wonderful support here. Alot of your symptoms are like mine. I have a son Matt now 9 yrs old that was born with mito, he is more severe than me. Our neuro's communicate with each other so that is a big help too. we are both on the mito cocktail of Carnitor, q-10, and creatine. My son takes other supplements besides the mito cocktail as his neuro tailored his treatment specifically for him. My son is going to have a second biopsy which will hopefully show which mutation we have, our neuros believe we have MELAS with complex 1 defyciancy. we are both doing well on the cocktail, and understanding our mito we've learned our limitations, so we dont over do things and we know what to avoid, and nutrician has alot to do with how well we do. Hang in there, there is hope! Hugs Barb Medical advice, information, opinions, data and statements contained herein are not necessarily those of the list moderators. The author of this e mail is entirely responsible for its content. List members are reminded of their responsibility to evaluate the content of the postings and consult with their physicians regarding changes in their own treatment. Personal attacks are not permitted on the list and anyone who sends one is automatically moderated or removed depending on the severity of the attack. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2006 Report Share Posted January 14, 2006 Hi , Im so sorry you are going through the fustration of waiting for answers, i do indeed understand as it took 6 years before i was properly diagnosed. My primary docs at the family practice i was at, first off never heard of Mito disease, and secondly they were trying to diagnose each symptom i had seperately. I even went through the " its all in your head " diagnosis. One good thing was they did so many test that we did find out I had degenerative joint and bone disease, and Osteo Athritis. Even after they were told my son was born with mito, they still refused to test me for mito. ( he is now 9 years old, and he was diagnosed by the time he was a year old) I had to change family practice to get things going. I switched to where Matt's pediatrician is, and Matts pediatrician helped me with my new doctor at that practice. Thats when the ball started rolling, i was already on disability as my disease kept progressing while my old family practiced hemmed and halled. I should have switched practices along time ago, that was my biggest mistake. I have a wonderful Neurologist that diagnosed me through muscle biospy, then i switched to a neuro at one of our big city hospitals, that has the MDA clinic. This much i know only go to doctors who know about Mito or who are willing to learn everything about it for your sake. I have recently been fighting cancer and my oncologist immedialty called my neurologist and my athritis doc, now my oncologist knows all they need to know about mito. I mean right down to the eye doctors to dentist, all should be chosen by what they know or by what they are willing to learn. Does your doc know about mito? Are you seeing a mito specialist. My son not only sees a neurologist but has a metobolic specialist. We both have GI docs and cardiologist that understand mito. Our eye doc and dentist were both willing to learn about it too. The worse experiences we've had is at the ER, even when we hand the doc a protocal of our disease written up by our neuro/metobolic specialist, and even after speaking to our specialist on the phone, some ER docs dont want to be told how to do things. Ive learned to put my foot down and demand they follow what our specialist say, If they dont i demand an ambulance to a different hospital after they stabalize us. Thats just the way it has to be. As far as the cocktail Matt had immediate success, it took me about a month and a half until i felt results. Although right now because of chemo and radiation the cocktail isnt working as well, but i cant imagion what shape id be in with out it. I hope Ive helped if you have anymore questions id be glad to answer what i can. Have you had a biopsy yet?? Have you seen a kidney specialist that is willing all already knows about mito? Are you seeing a neurologist? Hopefully you'll get your answers soon and then you can have your children checked out too, it should be easier for them once you have a diagnoses. Hugs Barb Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2006 Report Share Posted January 14, 2006 O Barbara, I'm so sorry about your cancer diagnosis, I will pray for you, hang in there. My goodness that is alot to cope with. I agree switching to a new doc did the trick for me. It was a week ago yesterday that I saw a new neurologist that virtually ruled out ms and leaned toward " an inherent error of metabolism, along the lines of mitochondrial disease, with ragged red fibers...... " after two years at a teaching hosp neuro's office that did nothing, not even a cup or tea and an asprin. So compared to your six years, that's good. How can docs be so closed minded, if your son was dx'd what would it hurt to entertain the thought that you could possibly have it? I can't even fathom how frustrated you must have been. I haven't seen a kidney specialist in two years, my problems were thought to be " boring oxsilate/calcium " stones caused by " medullary sponge cysts " in my kidneys...this new nuero said " renal tubular defect " too, so I'm guessing a new kidney doc is in the future. I'll go on Monday to see my internist, I love him, although he moved recently 50 minutes away -he was literally five mintues away, I think he'd be into researching on my behalf. My dentist is a bit of a scaredy-pants though. Why does the dentist need to be aware about it? I haven't really broached it with my girls, only the eldest we briefly discussed mitochondria " which has it's own dna, which means you inherit it from your mother " was her response- Ahhhhhhhhhh college kids! They're so smart. Well, thank you so much for listening, I hope you feel better soon. You are in my prayers. laura Barbara matts_mom96@...> wrote: Hi , Im so sorry you are going through the fustration of waiting for answers, i do indeed understand as it took 6 years before i was properly diagnosed. My primary docs at the family practice i was at, first off never heard of Mito disease, and secondly they were trying to diagnose each symptom i had seperately. I even went through the " its all in your head " diagnosis. One good thing was they did so many test that we did find out I had degenerative joint and bone disease, and Osteo Athritis. Even after they were told my son was born with mito, they still refused to test me for mito. ( he is now 9 years old, and he was diagnosed by the time he was a year old) I had to change family practice to get things going. I switched to where Matt's pediatrician is, and Matts pediatrician helped me with my new doctor at that practice. Thats when the ball started rolling, i was already on disability as my disease kept progressing while my old family practiced hemmed and halled. I should have switched practices along time ago, that was my biggest mistake. I have a wonderful Neurologist that diagnosed me through muscle biospy, then i switched to a neuro at one of our big city hospitals, that has the MDA clinic. This much i know only go to doctors who know about Mito or who are willing to learn everything about it for your sake. I have recently been fighting cancer and my oncologist immedialty called my neurologist and my athritis doc, now my oncologist knows all they need to know about mito. I mean right down to the eye doctors to dentist, all should be chosen by what they know or by what they are willing to learn. Does your doc know about mito? Are you seeing a mito specialist. My son not only sees a neurologist but has a metobolic specialist. We both have GI docs and cardiologist that understand mito. Our eye doc and dentist were both willing to learn about it too. The worse experiences we've had is at the ER, even when we hand the doc a protocal of our disease written up by our neuro/metobolic specialist, and even after speaking to our specialist on the phone, some ER docs dont want to be told how to do things. Ive learned to put my foot down and demand they follow what our specialist say, If they dont i demand an ambulance to a different hospital after they stabalize us. Thats just the way it has to be. As far as the cocktail Matt had immediate success, it took me about a month and a half until i felt results. Although right now because of chemo and radiation the cocktail isnt working as well, but i cant imagion what shape id be in with out it. I hope Ive helped if you have anymore questions id be glad to answer what i can. Have you had a biopsy yet?? Have you seen a kidney specialist that is willing all already knows about mito? Are you seeing a neurologist? Hopefully you'll get your answers soon and then you can have your children checked out too, it should be easier for them once you have a diagnoses. Hugs Barb Medical advice, information, opinions, data and statements contained herein are not necessarily those of the list moderators. The author of this e mail is entirely responsible for its content. List members are reminded of their responsibility to evaluate the content of the postings and consult with their physicians regarding changes in their own treatment. Personal attacks are not permitted on the list and anyone who sends one is automatically moderated or removed depending on the severity of the attack. Quote Link to comment Share on other sites More sharing options...
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